Thursday, March 21, 2013

We celebrate World Down Syndrome Day on March 21 because those with Down syndrome have three copies of the 21st chromosome, thus 3-21.Here's a message from our friends at Lejeune USA:

The Jérôme Lejeune Foundation, USA is proud to join with disability advocacy associations from 11 nations (Spain, Portugal, Croatia, the United-Kingdom, Italy, Germany, Poland, Latvia France, Russia, and New Zealand) in an international campaign to say together:

This week, on March 21st the 2nd official United Nations World Down Syndrome Day will be celebrated across the world. This event aims to raise public awareness about Down syndrome and promote the rights, inclusion and well being of people with Down syndrome in our communities.

With advanced methods of prenatal screening available now in the U.S., and soon coming to other countries, World Down Syndrome Day takes on a singular and urgent dimension. The expanded use of early (10 week) non-invasive prenatal tests for Down syndrome threatens to increase the already staggering number of terminations of pregnancies which are prenatally diagnosed. The expanded availability of these new maternal blood tests will almost certainly cause increased terminations, further stigmatization, and rejection of these valuable members of our communities.

Most countries still lack comprehensive health policies to ensure that families who receive an unexpected prenatal diagnosis of Down syndrome are provided with accurate information about positive therapeutic developments and outcomes for those living with Down syndrome. Additionally, efforts undertaken to facilitate integration of persons living with Down syndrome into educational systems and work places remains insufficient.

Parents, first and foremost, need to be provided with a positive and welcoming message when receiving a prenatal diagnosis of Down syndrome. As a society, we should support these families and encourage them to love, welcome, accept and raise a child with a disability with adequate support. Individuals living with Down syndrome and their families are entitled to the same dignity and respect afforded to any other members of society.

In this newly launched awareness campaign, five people of varying ages with Down syndrome representing diverse cultural and national backgrounds call for the attention of the public and their political representatives. Their goal is to lessen the fear of those in society who are uncomfortable with the disabled, especially those living with Down syndrome. Thanks to their beautiful, mischievous and joyful faces, they witness to all of us that happiness is indeed possible for themselves and their families.

On the 21st March, the Jérôme Lejeune Foundation, USA joins with advocacy organizations world-wide to proclaim the same urgent message: Down Syndrome… SO WHAT!

____________________________________________________________

The Jérôme Lejeune Foundation (http://lejeuneusa.org/) (Paris/U.S) was founded in 1996 and is the world’s largest private funder of Down Syndrome research, providing some $25 million worldwide. In 2010 alone the Foundation invested $4 million in research, and funded over 60 research projects which together are breaking new ground in both the understanding and management of Down Syndrome, Fragile X Syndrome, and other intellectual disabilities of genetic origin. The Foundation’s mission is based upon three closely joined pillars of activity: research, care, and advocacy, all carried out in a spirit of profound respect for the dignity of all human persons.

Tuesday, March 19, 2013

Monday, March 18, 2013

Franciscan University of Steubenville offers mission trips to its students who want to sacrifice their time and effort on spring break to help the less fortunate. Some are romantic, like the mission trip to Ecuador that everyone wanted and some less romantic, like working with the working poor in the depressed steel town of Steubenville itself. But my 19 year old Gabbi did the most sacrificial mission trip of all, she stayed home with me and did paperwork, housework and anything I needed.

Before she came home she asked me, "Mom, what do you need me to do?" It wasn't in an "I want to get it all over with so I can see my friends" request, because she said, "I want to make a list to make sure I get it all done". I was very edified to hear that, it was a balm to my tired soul.

I try to do my best without complaining, but taking care of Christina with Down syndrome who is unhappy at school because she is not learning to speak or read has become overwhelming. I need a change, and to get the school district to send her to a different school involves a staggering amount of work, paperwork, evaluations, documentation, legal work, etc, etc. It is not fun to say the least. Or glamorous. And the pay stinks. But Gabbi cheerfully helped me and we got a lot done. I no longer feel overwhelmed.

It was boring, exacting work, but she was cheerful and efficient. Thanks to Gabriela Velasquez 11 year old Christina will have the opportunity to learn to speak and to read. And she celebrated her 11th birthday in style, with lots of fun gifts and her two sisters and aunts and uncles present.

As Mother Teresa said, sometimes your greatest mission work will be with your own family.

Monday, March 4, 2013

Friday, March 1, 2013

There has been a tremendous breakthrough in Down syndrome cognitive research. Using mice with a version of Down syndrome, they have successfully treated some of the hyper-stimulation of the brain which impairs their ability to think and communicate. NO side effects!

Roche scientists and their collaborators corrected cognitive and behavioral deficits in Ts65Dn mice. They also showed that treatment with RO4938581 improved abnormalities of nerve cell number and function in adult Ts65Dn mouse brains. Together, these data demonstrate that selectively modulating GABA-A receptors in key regions of the brain results in major cognitive and behavioral improvements. These positive findings occur without unwanted side effects that have limited the use of non-selective GABA-A receptor blockers

Why should you be excited if you love someone with Down syndrome?

“Our drug research in Down syndrome may offer a novel therapeutic avenue to treat the cognitive deficits in people with Down syndrome, enhance their communications skills and ultimately help them have greater independence in their daily lives,” said Luca Santarelli, Head of Neuroscience at Roche.

I love my ten year old Christina as she is, but only my family can understand her attempts to communicate, and she wants to reach out and make friends, and will eventually want to find her place in this world. Helping her brain function best will enable her to communicate and achieve her dreams.
Read the entire article here.

Grant, O Lord, that nonemay love Thee less this daybecause of me.That never a word or act of minemay turn one soul from Thee;and, ever daring, yet one moregrace I would implore,that many souls this day,because of me,may love Thee more.Amen.

Twitter Updates

Prayer to Obtain Graces by God’s Servant’s IntercessionGod, who created man in your image and intended him to share your glory,We thank you for having granted to your Church the gift of professor Jerome Lejeune, a distinguished servant of life. He knew how to place his immense intelligence and deep faith at the service of the defense of human life, especially unborn life, always seeking to treat and to cure. A passionate witness to truth and charity, he knew how to reconcile faith and reason in the sight of today’s world.By his intercession, and according to your will, we ask you to grant us the graces we implore, hoping that he will soon become one of your saints. Amen.

As the cause for canonization of Lejeune moves forward, testimonies of medically inexplicable cures sought by his intercession will be recorded, and holy cards with this prayer are available at this address:Postulation de la cause de béatificationet de canonisation du Serviteur de Dieu Jérôme LejeuneAbbaye Saint-Wandrille F-76490Saint-Wandrille, France.